Late Diagnosis of Turner Syndrome in Adulthood;a Case Study from the Endocrinology-Diabetology Nutrition Department of the National Hospital of Pikine Senegal

Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities such as hypertension and primary hypothyroidism.

Study of the Effects of Glucocorticoid on Growth and Adult Final Height in Children with Primary Nephrotic Syndrome

Objective: To analyze the epidemiological characteristics of growth, as well as factors associated with growth retardation in children with primary nephrotic syndrome (PNS), and to investigate the effect of glucocorticoid (GC) use duration on growth retardation in these children. Methods: Clinical and laboratory data of 353 PNS children treated at our hospital from July 2014 to June 2015 were collected through the medical record management system. Height, weight, and GC usage were recorded. Follow-up assessments were conducted in August 2022 for the original group, recording height, weight, and GC usage. Height and weight were evaluated using standard deviation scores (SDS). Categorical data were analyzed using chi-square test while continuous measurement data were analyzed using t-test or rank-sum test. Linear regression was used to assess the association between two single independent variables, and logistic regression analysis was used to screen for risk factors related to growth retardation in children with PNS. Results: Among the 353 PNS children enrolled in this study, male-to-female ratio of 2.64:1 (256 males vs 97 females). A total of 119 children exhibited growth retardation, incidence rate of 33.71%. The duration of GC usage among those with growth retardation was significantly longer compared to those without it (762.81 ± 934.50 days vs 263.77 ± 420.49 days;p Conclusion: PNS children treated with GC have a high incidence of growth retardation, and a high proportion of short stature in adulthood, especially in children with growth retardation in childhood, most of them have short stature after grown up. Time of GC usage is a risk factor for growth retardation in children with PNS.

Association between Adiponectin and Metabolic Syndrome in Older Adults from Major Cities of China

Objective To investigate the association between adiponectin and metabolic syndrome （MetS） and related diseases in older adults from major cities of China. Methods A total of 2 049 adults at the age of 60-96 years from18 major cities of China were enrolled in the study. Plasma adiponectin and insulin concentrations were measured. Insulin resistance was assessed by homeostasis model assessment of insulin resistance （HOMA-IR）. The definitions proposed by International Diabetes Federation （IDF） and American Heart Association/National Heart, Lung, and Blood/nstitute （AHA/NLHBI） were used to identify MetS. Results The adiponectin concentration increased with the advance of age and was higher in women than in men. The sex specific adiponectin concentration was inversely correlated with body mass index （BMI）, waist circumference, diastolic blood pressure, triglycerides, glucose and fasting blood insulin, and positively correlated with HDL-C （P〈0.001）. The adiponectin concentration decreased with increasing MetS components. Compared with the 4th sex-specific adiponectin quartile, the odds ratio （OR） for prevalent MetS-IDF and MetS-AHA/NLHBI in subjects of the 1st quartile group was 3.25 （95% CI： 2.24, 4.71） and 3.21 （95% CI： 2.26, 4.55）, respectively. The association was independent of age, sex, life-style factors, medication, family history of chronic diseases, BMI, and HOMA-IR, The OR for MetS was much higher than those of MetS components and its related diseases. Conclusion Adiponectin is strongly associated with MetS independent of insulin resistance and obesity in older adults from major cities in China. The adiponectin concentration is a useful predictor for the risk of MetS.

Metabolic syndrome vs. its components for prediction of cardiovascular mortality： A cohort study in Chinese elderly adults

Objective The predictive value of the metabolic syndrome （MetS） for mortality from all-cause and cardiovascular disease （CVD） in the Chinese population is unclear. The aim of this present study was to compare MetS with its individual components as predictors of mortality in Chinese elderly adults. Methods A cohort of 1,535 subjects （994 men and 541 women） aged 50 years or older was selected from employees of a machinery factory in 1994 and followed until 2009. Cox models were used to estimate the hazard ratios （HRs） predicted by MetS according to the harmonized defmition and by its individual components. Results The baseline prevalence of MetS was 28.0% in men and 48.4% in women. During a median follow-up of 15 years, 414 deaths occurred, of these, 153 participants died from CVD. Adjusted for age and gender, the HRs of mortality from all-cause and CVD in participants with MetS were 1.47 （95% confidence interval （CI）： 1.20-1.80） and 1.96 （95%CI： 1.42-2.72）, respectively, compared with those without MetS. Non-significant higher risk of CVD mortality was seen in those with one or two individual components （HR = 1.22, 95%CI： 0.59-2.50; fir = 1.82, 95%CI： 0.91-3.64, respectively）, while a substantially higher risk of CVD mortality only appeared in those with 3, 4, or 5 components （H_R = 2.81-3.72）, compared with those with no components. On evaluating the MetS components individually, we found that, independent of MetS, only hypertension and impaired glucose predicted higher mortality. Conclusions The number of positive MetS components seems no more informative than classifying （dichotomous） MetS for CVD risks assessment in this Chinese cohort.

Acute coronary syndrome in the older adults

Coronary heart disease remains the leading cause of death in the developed world. Advanced age is the single strongest risk factor for coronary artery disease （CAD） and independent predictor for poor outcomes following an acute coronary syndrome （ACS）. ACS refers to a spectrum of conditions compatible with acute myocardial ischemia and/or infarction due to various degrees of reduction in co- ronary blood flow as a result of plaque rupture/erosion and thrombosis formation or supply and demand mismatch.

Dietary Patterns Associated Metabolic Syndrome in Chinese Adults

Dietary pattern has been revealed to be associated with metabolic syndrome. However, the association was not well documented in Chinese due to the complexity of Chinese foods. We mainly assessed the dietary patterns and examined their effects on metabolic syndrome among Chinese adults. Four dietary patterns including ＇Refined Grains ＆ Vegetables＂ Pattern, ＇Dairy ＆ Eggs＇ Pattern, ＇Organ Meat ＆ Poultry＇ Pattern, and ＇Coarse Grains ＆ Beans＇ Pattern were extracted. ＇Dairy ＆ Eggs＇ Pattern was associated with a decreased odds of metabolic syndrome in women, and ＇Coarse Grains ＆ Beans＇ Pattern was associated with a decreased odds of hypertension in men. These results provided a scientific basis for future research and dietarv euideline Perfection.

Laubry-Pezzi Syndrome in an Adult Male Patient and Its Surgical Correction: A Case Report and Literature Review

This Laubry-Pezzi syndrome is rarely seen in patients with ventricular septal defect (VSD) combined with aortic regurgitation. A 20-year-old male patient presented to the Cardiothoracic and vascular surgery department with a large VSD with severe aortic regurgitation (AR). However, he was first symptomatic at 12 years of age and initially treated by medical management with the suggestion of surgical correction. Nevertheless, he was delayed getting surgical management due to his financial problem. This article reported on an adult patient with Laubry-Pezzi syndrome and his surgical correction and outcome. The association of congenital defects VSD and AR needs to be identified and corrected in early life for better outcomes.

Association of Metabolic Syndrome with Inflammation in Chinese Adults with Different Kidney Function

Chronic kidney disease （CKD） has become a worldwide public health problem, and currently, it affects approximately 10% of adults in the United States[I]. Meanwhile, it also has emerged as an important social challenge in China[2]. CKD has been reported to be a major risk factor for cardiovascular diseases, premature death, and end-stage renal diseaseTM. Thus, it is necessary to determine the risk factors for CKD.

Efficacy and safety of non-pharmacological interventions for irritable bowel syndrome in adults

BACKGROUND Although nonpharmacological interventions(NPI) for irritable bowel syndrome(IBS) have been applied clinically, their relative efficacy and safety are poorly understood.AIM To compare and rank different NPI in the treatment of IBS.METHODS Five electronic databases were searched from their inception to January 12, 2020. Data of included publications were analyzed using network meta-analysis(NMA). Quality of endpoints were assessed by tools of the Cochrane Handbook and the GRADEpro software. Pooled relative risk or standardized mean difference with their corresponding 95% confidence intervals were used for statistical analysis. Surface under the cumulative ranking curve(SUCRA) probability value was conducted to rank the examined interventions. Sensitivity analysis was performed to verify the robustness of results and test the source of heterogeneity.RESULTS Forty randomized controlled trials with 4196 participants were included in this NMA. Compared with routine pharmacotherapies and placebo, acupuncture and cognitive behavioral therapy(CBT) had better efficacy in relieving IBS symptoms. Based on the SUCRA values, acupuncture ranked first in improving overall clinical efficacy and avoiding adverse effects. CBT ranked first in lowering the scores of IBS symptom severity scale, self-rating anxiety scale and self-rating depression scale.CONCLUSION This study confirmed the efficacy and safety of NPI for improving IBS symptoms, which to some extent recommended several interventions for clinical practice.

Excessive 5-year weight gain predicts metabolic syndrome development in healthy middle-aged adults

AIM:To quantitatively examine the impacts of an easyto-measure parameter-weight gain-on metabolic syndrome development among middle-aged adults. METHODS:We conducted a five-year interval observational study.A total of 1384 middle-aged adults not meeting metabolic syndrome(MetS)criteria at the initial screening were included in our analysis.Baseline data such as MetS-components and lifestyle factors were collected in 2002.Body weight and MetS-components were measured in both 2002 and 2007.Participants were classified according to proximal quartiles of weight gain(WG)in percentages(%WG≤1%,1%< %WG≤5%,5%<%WG≤10%and%WG>10%, defined as:control,mild-WG,moderate-WG and severe-WG groups,respectively)at the end of the follow-up. Multivariate models were used to assess the association between MetS outcome and excessive WG in the total population,as well as in both genders. RESULTS:In total,175(12.6%)participants fulfilled MetS criteria within five years.In comparison to the control group,mild-WG adults had an insignificant risk for MetS development while adults having moderate-WG had a 3.0-fold increased risk for progression to MetS [95%confidence interval(CI),1.8-5.1],and this risk was increased 5.4-fold(95%CI,3.0-9.7)in subjects having severe-WG.For females having moderate-and severe-WG,the risk for developing MetS was 3.6(95% CI,1.03-12.4)and 5.5(95%CI,1.4-21.4),respectively. For males having moderate-and severe-WG,the odds ratio for MetS outcome was respectively 3.0(95%CI, 1.6-5.5)and 5.2(95%CI,2.6-10.2). CONCLUSION:For early-middle-aged healthy adults with a five-year weight gain over 5%,the severity of weight gain is related to the risk for developing metabolic syndrome.

Associations of Sedentary Time and Physical Activity with Metabolic Syndrome among Chinese Adults:Results from the China Health and Nutrition Survey

Objective This study aimed to determine the independent and joint associations of sedentary time(ST)and physical activity(PA) with metabolic syndrome(MetS) and its components among Chinese adults.Methods The study analyzed data from 4,865 adults aged ≥ 18 years who participated in the 2009 and2015 China Health and Nutrition Surveys(CHNS). Four types of leisure ST and three types of PA selfreported at baseline were collected. Multivariable logistic regressions were used to determine the independent and joint associations of ST and PA with the odds of MetS or its components.Results For independent effects, higher levels of television time and total leisure ST was associated with higher MetS risk [odds ratio(OR) 1.3, 95% confidence interval(CI) 1.1–1.6, P < 0.001;OR 1.4, 95% CI1.2–1.8, P < 0.001, respectively]. The MetS risk in the computer time > 7 hours/week(h/w) group was higher than that in the < 7 h/w group in(OR 1.5, 95% CI 1.2–1.9). Higher levels of moderate-to-vigorousintensity physical activity(MVPA) and total PA were associated with a lower MetS risk(OR 0.7, 95% CI0.6–0.9, P < 0.001;OR 0.8, 95% CI 0.7–0.9, P < 0.001, respectively). For the joint effects, compared with those reporting the lowest level of total leisure ST(< 14 h/w) and the most active tertile of MVPA(≥ 61.0 MET-h/w), participants reporting the most total leisure ST(≥ 35 h/w) and the lowest level of MVPA(0 MET-h/w) had the highest odds of MetS(OR 2.0;95% CI 1.4–2.7). Except for people reporting ST(14–21 h/w) within the most active tertile of MVPA, the associations in all other groups were significant.With the increase of TV time and decreased MVPA, the odds of MetS almost showed a curve acceleration.Conclusions MVPA and total PA have independent preventive effects, and sedentary behavior(mainly watching TV) has an unsafe effect on MetS and its components. Strengthening the participation of MVPA and combining the LPA to replace the TV-based ST to increase the total PA may be necessary to reduce the prevalence of MetS in Chinese adults.

Studies on monitoring hemodynamics and oxygen dynamics of adult respiratory distress syndrome secondary to high altitude pulmonary edema

To study monitoring hemodynamics and oxygen dynamics of adult respiratory distress syndrome (ARDS) secondary to high altitude pulmonary edema (HAPE),we performed clinic and laboratory studies in 8 patients who preliminarily developed high altitude cerebral edema (HACE) and then ARDS occurred at an altitude of 4 500 m. After an initial emergency treatment on high mountains,all the patients were rapidly transported to a hospital at a lower altitude of 2 808 m. The right cardiac catheterizations were carried out within 5 h after hospitalized. The monitoring hemodynamics and oxygen dynamics were studied via a thermodilution Swan-Gaze catheter. The results showed that before treatments at the beginning of monitoring,there presented a significant pulmonary artery hypertension with a decreased cardiac function,and a lower oxygen metabolism in all the 8 patients. However,after some effective treatments,including mechanical ventilation and using dexamethasone,furosemide,etc,four days later the result of a repeated monitoring showed that their pulmonary artery pressure had been decreased with an improved cardiac function with all the oxygen metabolic indexes increased significantly. Our studies suggested that performing monitoring hemodynamics in patients with ARDS secondary to HAPE will define the clinical therapeutic measures which will benefit the outcome.

Small-for-size syndrome in adult-to-adult living-related liver transplantation

Small-for-size syndrome (SFSS) in adult-to-adult living-related donor liver transplantation (LRLT) remains the greatest limiting factor for the expansion of segmental liver transplantation from either cadaveric or living donors. Portal hyperperfusion, venous pathology, and the arterial buffer response signif icantly contribute to clinical and histopathological manifestations of SFSS. Here, we review the technical aspects of surgical and radiological procedures developed to treat SFSS in LRLT, along with the pathophysiology of this condition.

Study on acid-base disorders in patients with adult respiratory distress syndrome

Arterial blood gases and electrolytes were determined in 159 cases of adult respirato-ry distress syndrome(ARDS).It was found that disordered acid-base balance was a commonfinding in various kinds of ARDS.In mild ARDS,respiratory alkalosis and the combination ofrespiratory alkalosis plus metabolic alkalosis or metabolic acidosis were usually encounted,whilein moderate and severe cases of ARDS,triple acid-base disorders,respiratory acidosis,and thecombination of respiratory acidosis plus metabolic acidosis were commonly seen.Severe alkalosiswas one of the factors to result in death.

Identifying Characteristics of Adults Absent from a Metabolic Syndrome Checkup in Japan Using CHAID Dendrograms and Insurance Claim Data

To prevent the development of metabolic syndrome among adult members of the community, improving the participation rate in the specific medical checkup (a medical examination focused on factors associated with metabolic syndrome prior to the onset of lifestyle-related disease) is an important public health issue. This study used claim data and health checkup data and aimed to detect those community-dwelling adults who were least likely to participate in the specific medical checkup. Analysis included the medical and health checkup chart data of 61,753 adults aged 60 - 69 years (as of April 2011) who lived in Fukui prefecture, Japan. The chi-squared interaction was used to analyze data. If a person did not participate in the specific medical checkup, individual was categorized as “absent.” Between April 2012 and March 2013, 66.3% of subjects were absent from the specific medical checkup. Those most likely to be absent included those who were also absent at the previous year’s checkup, those who were men, and those who did not have an examination for hypertension;87.9% of patients who met all of these criteria were absent. Among women who were absent at the previous year’s checkup, the absentee rate differed by about 10.0% between those whose municipalities did (74.8%) or did not (84.2%) have a free checkup program. Our findings may help public health professionals detect those who require intervention and to effectively and efficiently improve participation in the specific medical checkup.

Retrospective self-reported weight changes during childhood and adolescence are not good predictors of metabolic syndrome risk factors in Mexican young adults

The purpose of the study was to examine whether retrospective self-reported weight changes during childhood and adolescence were associated with metabolic syndrome (MetS) risk factors in Mexican young adults. Mexican college applicants to the Universidad Autónoma de San Luis Potosí, Mexico, 18 to 25 years old (n = 4187) who had applied for the 2009 academic year were included in the study. Participants underwent a health screening—anthropometrics and blood drawn—and completed a questionnaire. Five major weight change categories were defined based on self-reported weight during childhood and adolescence: consistently normal, consistently underweight, consistently overweight/ obese, weight gain, and weight loss. Most participants self-reported being normal weight during childhood (58.7%) and adolescence (58.3%). Only a small proportion reported being overweight or obese during childhood (10.1%) or adolescence (15.9%). Weight change patterns during childhood and adolescence were marked by overall stability: 40.1% of participants were consistently normal, 15.6% underweight and 3.6% overweight/obese. Among those whose weight changed, 25.0% gained weight and 15.7% lost weight. In regression analyses, weight change categories based on self-reported weight statuses during childhood and adolescence were not associated with current metabolic syndrome risk factors after controlling for measured current BMI. Studies addressing the association between weight gains in early life with metabolic syndrome outcomes in early adulthood should not rely on recalled weight status during early life alone.

Prevalence of Metabolic Syndrome and Its Components among Saudi Young Adults 18 - 30 Years of Age

Background: Metabolic syndrome (MS) is a cluster of established cardiovascular risk factors that collectively increase predisposition to major chronic diseases, including heart diseases and diabetes mellitus. Young adults can be affected by MS or any of its components which predispose them to its complications later in their life. Hence early detection of MS and its components can be of help in preventing or controlling its adverse consequences among young adults. Materials and Methods: A total of 1354 Saudis aged 18 - 30 was randomly selected from 20 regions in the Kingdom of Saudi Arabia (KSA). Anthropometrics were collected, and fasting blood samples were collected to ascertain fasting blood glucose and lipid profile. Components of full MS and its components according to the International Diabetes Federation (IDF) were used in this study. Results: Metabolic syndrome prevalence was 12% and was significantly higher among males, advancing age and government employees and unemployed subjects but not according to income or education levels MS was significantly higher among current smokers, subjects with low physical activity level, but not significant according to dietary habits in terms of combined fruits and vegetables consumption. Low levels of High Density Lipoprotein (HDL) were the most frequent component in both males and females. Both waist circumference (WC) and low levels of HDL were much higher among females. Significant predictors included male gender, advancing age, lower level of physical activity and current smoking. Conclusion: The prevalence of MS is 12% in young adults. Low HDL is the most prevalent component of MS in young adults and thus may also be the first detectable component of MS in many young adults. Early identification of MS components could lead to targeted interventions to prevent the development of the syndrome, and thus reduce cardiovascular disease risk in later life.

Hemolytic uremic syndrome in adults: A case report

Thrombotic microangiopathies(TMA) are microvascular occlusive disorders characterized by platelet aggregation and mechanical damage to erythrocytes, clinically characterized by microangiopatic haemolytic anemia, thrombocytopenia and organ injury. We are reporting a case of a woman patient with severe hemolytic uremic syndrome associated to infectious diarrhoea caused by Shiga toxin-producing pathogen, who were admitted to our intensive care unit. The patient described developed as organ injury, neurological failure and acute renal failure, with need of haemodialysis technique. Due to the severity of the case and the delay in the results of the additional test that help us to the final diagnose, we treated her based on a syndromic approach of TMA with plasma exchange, with favourable clinical evolution with complete recovery of organ failures. We focus on the syndromic approach of these diseases, because thrombotic thrombocytopenic purpura, one of the disorders that are included in the syndromes of TMA, is considered a haematological urgency given their high mortality without treatment; and also review the TMA in adults: Their pathogenesis, management and outcomes.

Surgery for Pericardial Syndromes in Adults and Children: Clarification of Questionable Aspects

Background: The knowledge on pericardial disease has increased but the European Society of Cardiology in the last guidelines 2015 stated a section of perspective and unmet needs referring to the surgical management as one of these needs. Here, we present an institutional experience to contribute with other studies in explanation of questionable aspects about their surgical management. Methods: Among 127 cases (93 adults and 34 children) that were diagnosed as pericardial syndrome, we retrospectively analyzed 45 cases (40 adults and 5 children) operated for pericardial syndrome from May 2012 to June 2019. Echocardiogram was the main preoperative diagnostic tool. Surgical approach was selected according to each diagnosis. Postoperative clinical assessment, recurrence and mortality rate were the main determinants of outcome. Results: Regarding pericardial effusions, the mean preoperative medical treatment period was 17.7 ± 21.9 days and pericardial window through thoracotomy was the common approach (54.5%). In constrictive pericarditis, infection was the main etiology (40%), mean preoperative medical treatment period was 16 ± 8.8 days and complete pericardiectomy was the surgical procedure for most cases. Trans-sternal drainage was the standard approach for cardiac tamponade. No postoperative same admission recurrences were reported and 11 (24.4%) mortalities were recorded, 7 (15.5%) cases of them were diagnosed as malignant effusions. Conclusion: Decision making and surgical approach affect the outcome of surgery for pericardial syndromes. Children are more responsive to medical treatment than adults are. Primary etiology and patient’s condition are still the leading determinants of morbidity and mortality.

Exploring the association between gastrointestinal heat retention syndrome and adult chronic eczema: A caseecontrol study

Objective:To investigate the association between gastrointestinal heat retention syndrome(GHRS)and adult chronic eczema.Methods:This caseecontrol study compared GHRS/GHRS accompanied by damp-heat syndrome(GHRSDHS)and other patient characteristics between subjects with(cases)and without chronic eczema(controls)to identify potential factors associated with this condition.Semi-structured questionnaires were used to collect data via face-to-face interviews.Participants were recruited from Dongzhimen Hospital affiliated with Beijing University of Chinese Medicine.A logistic regression analysis was performed on the collected data,and odds ratios(ORs)were calculated.Results:A total of 168 cases and 172 controls were recruited.Among the cases of adult chronic eczema,there were 79 subjects with GHRS and 68 with GHRS-DHS.Sex(P=.02,OR=0.54,95%confidence interval[CI]:0.32-0.91),GHRS(P=.04,OR=1.90,95%CI:1.02-3.51),GHRS-DHS(P<.001,OR=4.89,95%CI:2.36-10.15),high sweet food consumption(P=.04,OR=2.03,95%CI:1.03-3.97),and mental stress(P=.01,OR=2.37,95%CI:1.26-4.47)were each found to be associated with chronic eczema.Furthermore,GHRS had a weak positive correlation with eczema EASI severity as measured by the eczema area and severity index(EASI)(P=003).Conclusion:GHRS/GHRS-DHS may be associated with adult chronic eczema.In the future,prospective cohort studies with larger samples should be conducted to investigate the cause and effect association between GHRS and adult chronic eczema.